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  • Title: Cognitive dysfunction in adults with Van der Woude syndrome.
    Author: Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B.
    Journal: Genet Med; 2007 Apr; 9(4):213-8. PubMed ID: 17438385.
    Abstract:
    PURPOSE: Van der Woude syndrome is an autosomal dominant disorder manifested in clefts of the lip and/or palate and lip pits. There is phenotypic and genotypic overlap between Van der Woude syndrome and isolated cleft of the lip and/or palate. Subjects with isolated cleft of the lip and/or palate have been shown to have cognitive dysfunction. Given the similarities between Van der Woude syndrome and isolated cleft of the lip and/or palate, the current study was designed to evaluate the pattern of cognitive function in adults with Van der Woude syndrome. METHODS: Fourteen adults with Van der Woude syndrome were compared with age- and gender-matched controls. A battery of cognitive tests was administered to determine general IQ as well as more specific cognitive performance measures. RESULTS: All subjects with Van der Woude syndrome showed deficits in performance on an executive function task. In addition, males with Van der Woude syndrome had significantly lower scores on intelligence measures and on a verbal fluency task compared with controls. CONCLUSION: The pattern of cognitive function in Van der Woude syndrome is very similar to that seen in isolated cleft of the lip and/or palate. In addition, the findings have a significant gender effect in which males are more severely affected than females. This pattern is common to other conditions with a neurodevelopmental etiology, supporting the notion that the cognitive deficits of Van der Woude syndrome and isolated cleft of the lip and/or palate are due to abnormal brain development.
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